Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00423:Spire1'

3304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spire1

Ensembl Gene

ENSMUSG00000024533

Gene Name

spire type actin nucleation factor 1

Synonyms

6030430B19Rik, Spir-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

IGL00423

Quality Score

Status

Chromosome

Chromosomal Location

67488209-67610790 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67529015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 116 (V116A)

Ref Sequence

ENSEMBL: ENSMUSP00000110702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045105] [ENSMUST00000082243] [ENSMUST00000115050] [ENSMUST00000224799]

AlphaFold

Q52KF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045105
AA Change: V116A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049336
Gene: ENSMUSG00000024533
AA Change: V116A

Domain	Start	End	E-Value	Type
Pfam:KIND	1	78	3.3e-27	PFAM
PDB:4EFH\|B	176	232	9e-6	PDB
low complexity region	289	316	N/A	INTRINSIC
low complexity region	339	350	N/A	INTRINSIC
SCOP:d1zbdb_	445	518	1e-7	SMART
low complexity region	596	606	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000082243
AA Change: V116A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080871
Gene: ENSMUSG00000024533
AA Change: V116A

Domain	Start	End	E-Value	Type
Blast:KIND	1	73	2e-26	BLAST
PDB:3RBW\|D	1	79	3e-28	PDB
PDB:4EFH\|B	176	232	9e-6	PDB
low complexity region	302	329	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
SCOP:d1zbdb_	400	473	2e-7	SMART
low complexity region	551	561	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115050
AA Change: V116A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533
AA Change: V116A

Domain	Start	End	E-Value	Type
PDB:4EFH\|B	106	162	9e-6	PDB
low complexity region	219	246	N/A	INTRINSIC
low complexity region	269	280	N/A	INTRINSIC
SCOP:d1zbdb_	317	390	4e-7	SMART
low complexity region	468	478	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000224799
AA Change: V46A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal brain anatomy and intact visual and motor functions in both sexes, but show a male-specific increase in contextual and cued fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	A	14: 8,473,370	P600S	possibly damaging	Het
Acan	A	G	7: 79,097,824	E781G	probably benign	Het
Acp7	T	C	7: 28,614,697	T358A	possibly damaging	Het
Adamtsl2	C	A	2: 27,085,088	T199K	probably damaging	Het
Ap4e1	T	A	2: 127,028,289	S179T	probably damaging	Het
BC048671	A	G	6: 90,303,218	T39A	probably benign	Het
Cnr1	G	A	4: 33,944,116	S168N	probably damaging	Het
Cp	T	C	3: 19,985,662	V881A	possibly damaging	Het
Cyp4x1	T	C	4: 115,121,948	T151A	probably benign	Het
Drd2	T	C	9: 49,395,758	I48T	probably damaging	Het
Gemin5	A	T	11: 58,163,817	I253N	probably damaging	Het
Herc3	T	A	6: 58,868,715	I407K	probably damaging	Het
Ighmbp2	G	T	19: 3,268,704	H457Q	probably benign	Het
Mboat1	A	G	13: 30,195,793		probably benign	Het
Myh2	T	C	11: 67,197,345	V1929A	probably benign	Het
Nucb2	T	A	7: 116,521,831		probably benign	Het
Pcsk5	T	C	19: 17,642,559	N383S	probably benign	Het
Pde1a	A	G	2: 79,865,670	L443P	probably damaging	Het
Prph2	A	T	17: 46,919,778	N199I	probably damaging	Het
Rab27b	A	G	18: 69,996,067		probably null	Het
Ranbp3	G	A	17: 56,709,238	D336N	probably damaging	Het
Rangap1	T	C	15: 81,721,993	D49G	probably benign	Het
Rasa3	G	A	8: 13,595,410		probably benign	Het
Serpina6	T	A	12: 103,651,903	N217I	probably damaging	Het
Sorbs2	A	G	8: 45,799,706		probably null	Het
Tdrd1	T	C	19: 56,851,464	V652A	possibly damaging	Het
Tmprss11g	T	C	5: 86,492,191	E193G	probably benign	Het
Zfp451	A	T	1: 33,777,579	V213D	probably benign	Het

Other mutations in Spire1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01639:Spire1	APN	18	67545668	missense	possibly damaging	0.74
IGL02334:Spire1	APN	18	67506655	missense	probably benign	0.00
PIT4677001:Spire1	UTSW	18	67491365	missense	probably damaging	1.00
R0457:Spire1	UTSW	18	67552600	missense	probably damaging	0.98
R0531:Spire1	UTSW	18	67491305	missense	probably damaging	1.00
R0608:Spire1	UTSW	18	67528875	missense	probably damaging	0.99
R2098:Spire1	UTSW	18	67503466	missense	probably damaging	0.99
R2299:Spire1	UTSW	18	67530423	missense	probably damaging	1.00
R3028:Spire1	UTSW	18	67491347	missense	probably damaging	1.00
R3815:Spire1	UTSW	18	67506663	missense	probably benign	0.05
R4049:Spire1	UTSW	18	67529031	splice site	probably null
R4050:Spire1	UTSW	18	67529031	splice site	probably null
R4059:Spire1	UTSW	18	67545713	missense	probably damaging	0.98
R4109:Spire1	UTSW	18	67497217	missense	probably damaging	1.00
R4700:Spire1	UTSW	18	67512865	missense	probably benign	0.01
R4941:Spire1	UTSW	18	67519314	missense	possibly damaging	0.54
R4995:Spire1	UTSW	18	67552779	splice site	probably null
R5363:Spire1	UTSW	18	67506555	missense	probably damaging	1.00
R5561:Spire1	UTSW	18	67506646	missense	probably damaging	0.96
R5795:Spire1	UTSW	18	67495195	missense	probably benign
R5952:Spire1	UTSW	18	67506709	missense	probably benign	0.00
R5982:Spire1	UTSW	18	67497316	critical splice acceptor site	probably null
R7388:Spire1	UTSW	18	67519880	missense	probably damaging	1.00
R7559:Spire1	UTSW	18	67501117	missense	probably benign	0.04
R8006:Spire1	UTSW	18	67501181	nonsense	probably null
R8111:Spire1	UTSW	18	67519321	missense	probably damaging	0.98
R8675:Spire1	UTSW	18	67491308	missense	possibly damaging	0.48
R8946:Spire1	UTSW	18	67496616	missense	probably damaging	1.00
R9441:Spire1	UTSW	18	67519392	missense	probably benign	0.41
T0970:Spire1	UTSW	18	67501063	splice site	probably null
Z1088:Spire1	UTSW	18	67495152	missense	possibly damaging	0.89

Posted On

2012-04-20